Mutation analysis of the MCM gene in Israeli patients with mut0 disease

Itai Berger; Avraham Shaag; Yair Anikster; E. Regula Baumgartner; Maskit Bar-Meir; Adina Joseph; Orly N. Elpeleg

doi:10.1006/mgme.2001.3166

Mutation analysis of the MCM gene in Israeli patients with mut⁰ disease

Itai Berger, Avraham Shaag, Yair Anikster, E. Regula Baumgartner, Maskit Bar-Meir, Adina Joseph, Orly N. Elpeleg

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

Abstract

Three novel mutations (IVS8+3a → g, N219Y, and E414X) were identified in 6 unrelated patients with mut⁰ methylmalonic aciduria. The presence of a wild-type along with rearranged fragments in homozygotes for the IVS8+3a → g mutation may contribute to their later age of onset (3-11 months of age). Nonetheless, delayed onset was not associated with better neurological outcome and prolonged survival. The large number of undiagnosed dead sibs in most families suggests that the disease is largely underdiagnosed in this region.

Original language	English
Pages (from-to)	107-110
Number of pages	4
Journal	Molecular Genetics and Metabolism
Volume	73
Issue number	1
DOIs	https://doi.org/10.1006/mgme.2001.3166
State	Published - 1 Jan 2001
Externally published	Yes

Keywords

Methylmalonyl-CoA mutase
Mut methylmalonic acidemia

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

Access to Document

10.1006/mgme.2001.3166

Cite this

@article{b1ef1b4b66a846e28a12e083d05f9851,

title = "Mutation analysis of the MCM gene in Israeli patients with mut0 disease",

abstract = "Three novel mutations (IVS8+3a → g, N219Y, and E414X) were identified in 6 unrelated patients with mut0 methylmalonic aciduria. The presence of a wild-type along with rearranged fragments in homozygotes for the IVS8+3a → g mutation may contribute to their later age of onset (3-11 months of age). Nonetheless, delayed onset was not associated with better neurological outcome and prolonged survival. The large number of undiagnosed dead sibs in most families suggests that the disease is largely underdiagnosed in this region.",

keywords = "Methylmalonyl-CoA mutase, Mut methylmalonic acidemia",

author = "Itai Berger and Avraham Shaag and Yair Anikster and Baumgartner, {E. Regula} and Maskit Bar-Meir and Adina Joseph and Elpeleg, {Orly N.}",

note = "Funding Information: This work was supported by the Israeli Ministry of Health Grant 3272. The expert technical assistance of E. Chen is acknowledged.",

year = "2001",

month = jan,

day = "1",

doi = "10.1006/mgme.2001.3166",

language = "English",

volume = "73",

pages = "107--110",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

publisher = "Academic Press Inc.",

number = "1",

}

TY - JOUR

T1 - Mutation analysis of the MCM gene in Israeli patients with mut0 disease

AU - Berger, Itai

AU - Shaag, Avraham

AU - Anikster, Yair

AU - Baumgartner, E. Regula

AU - Bar-Meir, Maskit

AU - Joseph, Adina

AU - Elpeleg, Orly N.

N1 - Funding Information: This work was supported by the Israeli Ministry of Health Grant 3272. The expert technical assistance of E. Chen is acknowledged.

PY - 2001/1/1

Y1 - 2001/1/1

N2 - Three novel mutations (IVS8+3a → g, N219Y, and E414X) were identified in 6 unrelated patients with mut0 methylmalonic aciduria. The presence of a wild-type along with rearranged fragments in homozygotes for the IVS8+3a → g mutation may contribute to their later age of onset (3-11 months of age). Nonetheless, delayed onset was not associated with better neurological outcome and prolonged survival. The large number of undiagnosed dead sibs in most families suggests that the disease is largely underdiagnosed in this region.

AB - Three novel mutations (IVS8+3a → g, N219Y, and E414X) were identified in 6 unrelated patients with mut0 methylmalonic aciduria. The presence of a wild-type along with rearranged fragments in homozygotes for the IVS8+3a → g mutation may contribute to their later age of onset (3-11 months of age). Nonetheless, delayed onset was not associated with better neurological outcome and prolonged survival. The large number of undiagnosed dead sibs in most families suggests that the disease is largely underdiagnosed in this region.

KW - Methylmalonyl-CoA mutase

KW - Mut methylmalonic acidemia

UR - http://www.scopus.com/inward/record.url?scp=0035716878&partnerID=8YFLogxK

U2 - 10.1006/mgme.2001.3166

DO - 10.1006/mgme.2001.3166

M3 - Article

AN - SCOPUS:0035716878

SN - 1096-7192

VL - 73

SP - 107

EP - 110

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 1

ER -